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NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) AND Hypertrophic cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 7, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001254741.2

Allele description

NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)

Gene:
TMEM43:transmembrane protein 43 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
Other names:
p.S358L:TCG>TTG
HGVS:
  • NC_000003.12:g.14141665C>T
  • NG_008975.1:g.21726C>T
  • NM_024334.3:c.1073C>TMANE SELECT
  • NP_077310.1:p.Ser358Leu
  • NP_077310.1:p.Ser358Leu
  • LRG_435t1:c.1073C>T
  • LRG_435:g.21726C>T
  • LRG_435p1:p.Ser358Leu
  • NC_000003.11:g.14183165C>T
  • NM_024334.2:c.1073C>T
  • Q9BTV4:p.Ser358Leu
  • c.1073C>T
  • p.S358L
Protein change:
S358L; SER358LEU
Links:
UniProtKB: Q9BTV4#VAR_044438; OMIM: 612048.0001; dbSNP: rs63750743
NCBI 1000 Genomes Browser:
rs63750743
Molecular consequence:
  • NM_024334.3:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001430826Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
no assertion criteria provided
Pathogenic
(Aug 7, 2019) 		germlineresearch

PubMed (14)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL.

Am J Hum Genet. 2008 Apr;82(4):809-21. doi: 10.1016/j.ajhg.2008.01.010. Epub 2008 Feb 28.

PubMed [citation]
PMID:
18313022
PMCID:
PMC2427209

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.

Rajkumar R, Sembrat JC, McDonough B, Seidman CE, Ahmad F.

BMC Med Genet. 2012 Mar 29;13:21. doi: 10.1186/1471-2350-13-21.

PubMed [citation]
PMID:
22458570
PMCID:
PMC3352248
See all PubMed Citations (14)

Details of each submission

From Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, SCV001430826.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (14)

Description

This variant has been identified in 1 HCM proband of Southern Asian descent as part of our research program. For further information please feel free to contact us.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024